Gene: SCYL1

Alternate names for this Gene: GKLP|HT019|NKTL|NTKL|P105|SCAR21|TAPK|TEIF|TRAP

Gene Summary: This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: SCY1 like pseudokinase 1

Type of Gene: protein-coding

rs947791 in SCYL1 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1554967681 in SCYL1 gene and Liver Failure, Acute PMID 29419818 2018 SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

rs1554967681 in SCYL1 gene and Nerve Degeneration PMID 29419818 2018 SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).